{"title":"妊娠20周后4例1型肌强直营养不良（DM1）和1例先天性肌副张力（PMC）患者的疼痛性肌肉僵硬伴血清肌酸激酶（CK）水平显著升高。","authors":"Masanobu Kinoshita, Masaomi Yamamoto, Ryuichi Machida, Masahiro Misawa, Shinichiro Yabe, Norihito Yoshida, Akihiko Kikuchi, Hikoaki Fukaura, Kenichi Kaida, Kinji Ohno","doi":"10.1177/22143602251329168","DOIUrl":null,"url":null,"abstract":"<p><p>Four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC) developed devastating painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after 20 weeks of gestation. Immediately after delivery, painful muscle stiffness completely disappeared and the CK levels returned to the baseline. In a patient with DM1, muscle biopsy at delivery and skeletal muscle MRI in six days after delivery showed inflammatory changes, which disappeared in MRI on postpartum day 41. Pregnancy-associated aggravation of myotonia has been reported in myotonic disorders, but painful muscle stiffness has been scarcely reported. Inactivation of muscle Cl channel by progesterone that is prominently increased in the middle phase of gestation is likely to be the underlying mechanism of the pregnancy-associated painful muscle stiffness in myotonic disorders.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251329168"},"PeriodicalIF":3.2000,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC).\",\"authors\":\"Masanobu Kinoshita, Masaomi Yamamoto, Ryuichi Machida, Masahiro Misawa, Shinichiro Yabe, Norihito Yoshida, Akihiko Kikuchi, Hikoaki Fukaura, Kenichi Kaida, Kinji Ohno\",\"doi\":\"10.1177/22143602251329168\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC) developed devastating painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after 20 weeks of gestation. Immediately after delivery, painful muscle stiffness completely disappeared and the CK levels returned to the baseline. In a patient with DM1, muscle biopsy at delivery and skeletal muscle MRI in six days after delivery showed inflammatory changes, which disappeared in MRI on postpartum day 41. Pregnancy-associated aggravation of myotonia has been reported in myotonic disorders, but painful muscle stiffness has been scarcely reported. Inactivation of muscle Cl channel by progesterone that is prominently increased in the middle phase of gestation is likely to be the underlying mechanism of the pregnancy-associated painful muscle stiffness in myotonic disorders.</p>\",\"PeriodicalId\":16536,\"journal\":{\"name\":\"Journal of neuromuscular diseases\",\"volume\":\" \",\"pages\":\"22143602251329168\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-03-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of neuromuscular diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/22143602251329168\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of neuromuscular diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/22143602251329168","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC).
Four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC) developed devastating painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after 20 weeks of gestation. Immediately after delivery, painful muscle stiffness completely disappeared and the CK levels returned to the baseline. In a patient with DM1, muscle biopsy at delivery and skeletal muscle MRI in six days after delivery showed inflammatory changes, which disappeared in MRI on postpartum day 41. Pregnancy-associated aggravation of myotonia has been reported in myotonic disorders, but painful muscle stiffness has been scarcely reported. Inactivation of muscle Cl channel by progesterone that is prominently increased in the middle phase of gestation is likely to be the underlying mechanism of the pregnancy-associated painful muscle stiffness in myotonic disorders.
期刊介绍：
The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). The journal publishes research reports, reviews, short communications, letters-to-the-editor, and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
